Canonical Allele Identifier: PA2825064893
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 972340
ClinVar RCV Id: RCV001248345
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro54Leu
CA8814799
NM_000152.5:c.161C>T